Congenital lip sinus is a rare entity with upper lip sinus being rarer than the lower lip sinus. It can be an isolated entity or associated with cleft lip, palate or Van der Woude syndrome. Syndromic association requires proper evaluation and aggressive surgical treatment. Preoperative delineation of the sinus tract with ultrasound sonography or MRI is mandatory. Simple excision is sufficient in cases of isolated sinuses. In this article, we report an infant with upper lip sinus managed successfully with simple excision and reviewed the literature. Most commonly, IRF6-related disorders span a spectrum from isolated cleft lip and palate and Van der Woude syndrome (VWS) at the mild end to popliteal pterygium syndrome (PPS) at the more severe end. In rare instances, IRF6 pathogenic variants have also been reported in individuals with nonsyndromic orofacial cleft (18/3,811; 0.47%) and in individuals with spina bifida (2/192). Individuals with VWS show one or more of the following anomalies: Congenital, usually bilateral, paramedian lower-lip fistulae (pits) or sometimes small mounds with a sinus tract leading from a mucous gland of the lip. Cleft lip (CL). Cleft palate (CP). Note: Cleft lip with or without cleft palate (CL±P) is observed about twice as often as CP only. Submucous cleft palate (SMCP). The PPS phenotype includes the following: CL±P. Fistulae of the lower lip. Webbing of the skin extending from the ischial tuberosities to the heels. In males: bifid scrotum and cryptorchidism. In females: hypoplasia of the labia majora. Syndactyly of fingers and/or toes. Anomalies of the skin around the nails. A characteristic pyramidal fold of skin overlying the nail of the hallux (almost pathognomonic). In some nonclassic forms of PPS: filiform synechiae connecting the upper and lower jaws (syngnathia) or the upper and lower eyelids (ankyloblepharon). Other musculoskeletal anomalies may include spina bifida occulta, talipes equinovarus, digital reduction, bifid ribs, and short sternum. In VWS, PPS, IRF6-related neural tube defect, and IRF6-related orofacial cleft, growth and intelligence are typical. Diagnosis of an IRF6-related disorder is established in a proband with suggestive findings and a heterozygous pathogenic variant in IRF6 identified by molecular genetic testing. A heterozygous pathogenic variant in IRF6 is identified in approximately 72% of individuals with the VWS phenotype, approximately 97% of individuals with the PPS phenotype, and fewer than 1% of individuals with a neural tube defect or orofacial cleft. Treatment of manifestations: Supportive/symptomatic treatment of VWS and PPS may include surgical treatment of lip pits and cleft lip and palate pediatric dentistry, orthodontia, speech therapy, feeding therapy, timely treatment of otitis media due to eustachian tube dysfunction to prevent secondary hearing loss, physical therapy, orthopedic care, and surgical treatment for cryptorchidism. Surgical treatment may be needed for those with oral and/or eyelid synechiae. IRF6-related neural tube defects are treated in a standard manner as per neurosurgeon. IRF6-related orofacial clefts are treated in a standard manner. Surveillance: Surveillance for those with cleft lip and/or cleft palate includes weekly assessment of nutritional intake and weight gain during the first month of life; otolaryngologic evaluation within the first six months of life and continued throughout adolescence; audiologic evaluation with infant's first visit to cleft clinic, with the frequency of subsequent evaluations based on the history of ear disease or hearing loss; speech-language pathology evaluation by age six months, twice during the first two years of life, at least annually until age six years, at least annually until after adenoid involution, and at least every two years until dental and skeletal maturity; dental evaluation within six months of the first tooth erupting and no later than age 12 months, and routine dental evaluation continued throughout life. In individuals with myelomeningocele, assessment of walking and mobility and bowel and bladder management with each visit throughout life. IRF6-related disorders are inherited in an autosomal dominant manner. Most individuals diagnosed with an IRF6-related clefting disorder (e.g., VWS or PPS) inherited an IRF6 pathogenic variant from a heterozygous parent who may or may not have manifestations of the disorder. The risk to the sibs of the proband depends on the genetic status of the proband's parents: if a parent of the proband is affected and/or has an IRF6 pathogenic variant, the risk to the sibs of inheriting the pathogenic variant is 50%. Once an IRF6 pathogenic variant has been identified in an affected family member, prenatal testing for a pregnancy at increased risk and preimplantation genetic testing are possible. Prenatal ultrasound examination may detect a cleft lip with/without cleft palate in some fetuses later in the second trimester, but it is much less likely to detect an isolated cleft palate or lip pits.

Congenital lip pits are characterized by sinuses or fistulas in the lips that can occur in isolation or as part of a genetic disorder. A 6-year-old girl with a right upper lip lesion present at birth presented with recurrent swelling and occasional erythema. Examination revealed a mildly swollen punctum at the right upper wet/dry vermillion with expressible serous drainage. There were no other phenotypic or cognitive concerns. The lesion was surgically excised using vertical wedge resection. The postoperative course showed well well-healed incision. The pathology report confirmed a lip pit. The family was referred to genetics for further evaluation. Van der Woude syndrome (VWS) is a genetic disorder associated with abnormal development of the paramedian lip. Most congenital lip pits are primarily found on the lower lips, with paramedian lip pits being the most common. Upper lateral lip pits with or without accompanying lip pits are considerably rarer. Though VWS is commonly associated with mutations in the interferon regulatory factor 6 or grainyhead-like protein 3 genes, ~25% of affected individuals lack an identified genetic etiology. A high index of suspicion for VWS is warranted if lip pits are present in the absence of other phenotypic abnormalities and should prompt genetic testing for interferon regulatory factor 6 and grainyhead-like protein 3 mutations. Multidisciplinary teams should consider patient self-esteem, quality of life, and potential family planning when deciding on surgical intervention for lip pits. Surgical management of pits should entail tissue-preserving techniques such as vertical wedge resection and inverted T-lip reduction to prevent whistle-lip deformity.

To present a rare case of a midline congenital upper lip sinus and its management. Background: A lip sinus is a rare condition, where a failure of the complete union during early stages of development leads to its formation. The prevalence of lower lip sinus is estimated to be about 0.00001% of the white population and that of upper lip sinus is even rarer. A congenital lip sinus maybe associated with syndromes such as; Von der Woude syndrome, or maybe present in isolation. A 25-year-old male presented to our clinic with intermittent swelling in the upper lip region. Clinical examination revealed a congenital midline lip sinus in the upper lip region, which had no intra-oral communication, and was managed by surgical excision. Till date, there has been a hand full of case reports of upper lip sinuses and fistulae, out of which only few are reported in India. We herein report a case of congenital upper lip sinus presenting as an intermittent swelling of the upper lip with its successful surgical management.

To identify ways to improve care to underserved international populations. To analyze the authors' data in hopes of meeting further needs. This is a retrospective review of medical missions using data from the American Academy of Facial Plastic and Reconstructive Surgery (AAFPRS) Face to Face) Database. International sites of AAFPRS approved surgical mission trips. One thousand six hundred forty-six patients who were seen by an AAFPRS mission trip between January 12, 2010 and April 27, 2017. Patient and mission data, procedure data, characteristics of cleft patients, patient follow-up data, repeat patient data, and factors affecting whether a patient was provided service were all evaluated. Patients were seen over the course of 26 trips to 6 different countries. Patients (n, mean, median age) who underwent a primary cleft lip repair only (175, 2.5 years, 0.6 years) and those who underwent a primary cleft palate repair only (268, 6.4 years, 3.6 years) were significantly older than what is identified as the upper range of normal in surgical literature (Wilcoxon Signed-Rank test Z = -4.3, P < 0.001 for lip and Z = -10.1, P < 0.001 for palate). Patients (n, median, mean rank) receiving a primary cleft palate repair were significantly younger in Peru (160, 3.0 years, 126) compared with patients in other countries (108, 5.0 years, 147) (Z = -2.1, P < 0.05). The odds of a patient returning unplanned were 2.8 (OR, 95% CI 1.52-4.98; P < 0.01) times higher if they were diagnosed with a cleft palate only and 0.91 (OR, 95% CI 0.90-0.93; P < 0.05) times lower if they were diagnosed with combined cleft lip with cleft palate at their first visit. Patients (median age, mean rank) who were provided a service (6.0 years, 724.70) were younger than patients who were not provided a service (8.0 years, 637.23) at their first visit (Mann-Whitney, U = 164,275; P < 0.001). This data indicates that disparities exist among patients treated on mission trips compared with those in higher income countries. Furthermore, the authors' data indicate that multiple mission trips to the same country within the same year decrease some of these disparities. Additionally, isolated cleft palate patients are most likely to return unplanned indicating need for standardized postoperative visits. The preferential care of younger patients with unrepaired clefts as compared with older patients and those with palatal fistulas indicates a need for additional resource allocation.

Congenital pits of the lip are uncommon and may be associated with conditions such as Van der Woude syndrome. Isolated lip pits are extremely rare developmental defects. A 7 year old Caucasian girl presented to plastic surgery clinic in Jordan University academic hospital complaining of an upper lip pit that has been present since birth. It was associated with a single episode of whitish discharge. On examination, an isolated upper lip midline sinus was found. She is otherwise fit and healthy. Surgical excision was curative with good cosmetic outcome. The prevalence of lower lip sinuses has been estimated to be about 0.00001% of the white population. Upper lip sinuses are even more uncommon. To date, there have been several case reports of upper lip sinuses and fistulas. A total of 55 cases was found upon reviewing the English literature. No similar cases were reported in Jordan. Different presentations are mentioned in this review. Several embryologic theories are presented. Upper lip sinus formations are rare developmental events, and the pathogenesis of these lesions still needs further evaluation. Simple surgical excision is the treatment of choice.